ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.375del (p.His125fs)

dbSNP: rs1603321154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008932 SCV001168739 likely pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing The c.375delT variant in the CD40L gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Histidine 125, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.His125GlnfsX3. This variant is predicted to cause loss of normal protein function through protein truncation. In summary, we consider this variant to be likely pathogenic.

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